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Disease Profile

Benign rolandic epilepsy (BRE)

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

G40.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Benign rolandic epilepsy of childhood (BREC); Benign epilepsy with centro-temporal spikes (BECTS); Benign epilepsy of childhood with centrotemporal spikes (BECCT)

Categories

Nervous System Diseases

Summary

Benign rolandic epilepsy (BRE) is the most common form of childhood epilepsy. It is referred to as "benign" because most children outgrow the condition by puberty. This form of epilepsy is characterized by seizures involving a part of the brain called the rolandic area.[1] These seizures typically begin between the ages of 3 and 12 years and occur during the nighttime.[2] Other features of BRE include headaches or migraines and behavioral and/or learning differences.[3] BRE is thought to be a genetic disorder because most affected individuals have a family history of epilepsy.[3][4] Treatment for BRE may depend on the symptoms and severity in each person. Because BRE resolves on its own before adulthood, many children with BRE who have infrequent seizures that only occur at night do not take anti-epileptic drugs (AEDs).[1] However, there have been studies suggesting that BRE may cause lasting cognitive or behavioral problems in some people.[5] Medication is more likely to be recommended in children with frequent or daytime seizures, cognitive impairment, or a learning disorder.[1] Each family must consult with their physician(s) and make their own decision about whether to treat BRE.[3]

Symptoms

BRE typically begins between the ages of 3 and 13 years with nighttime seizures. The episodes usually begin with twitching and stiffness in the face, that often wakes up the individual.[6] There may be a tingling feeling on one side of the mouth that involves the tongue, lips, gums and inside of the cheek.[6][7] The seizure can also involve the throat, which may make speech unclear and difficult to understand.[7] Occasionally, both sides of the body may be affected, which can lead to stiffness and jerking movements of the arms and legs, and loss of consciousness. Loss of bladder control (incontinence) may also occur.[7]

Some individuals with BRE experience headaches or migraines, learning difficulties, and behavioral problems during the period of time that they have seizures. In many children, once seizures stop and brain activity returns to normal, these issues resolve.[1][5] However, there have been studies suggesting that cognitive or behavioral problems may persist in some people.[5] More studies regarding whether there is an increased chance of long-term impairments in those with BRE are needed.[8][5]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Bilateral tonic-clonic seizure with focal onset
0007334
EEG with centrotemporal focal spike waves
0012557
Nocturnal seizures
0031951
Sporadic
No previous family history
0003745

Cause

BRE is thought to be a genetic disorder. Studies suggest that certain regions on chromosome 11 (11p13) and chromosome 15 (15q14) may be involved in BRE, but a specific gene has not been identified.[4]

Treatment

Treatment for BRE may depend on the symptoms and severity in each person. In general, BRE typically does not require intensive therapy.[3] Because seizures may be infrequent and usually occur at night, and because of the potential side affects of anti-epileptic drugs, many children with BRE do not take medication.[1][9] However, emerging data on neuropsychological problems in people with BRE suggests that the syndrome may not be entirely without long-term effects.[9] A recently recognized concern in children with BRE is a higher incidence of neuropsychological deficits.[9] Each family must consult with their physician(s) and make their own decision about whether they are more comfortable treating or not treating BRE.[3] The need for medication is generally bigger if a child has frequent seizures, daytime seizures, cognitive problems, or a learning disorder.[1]

When BRE is treated, medications may include AEDs such as carbamazepine, gabapentin, levetiracetam, or others. Most children with BRE respond to a low dose of a single drug, but some have seizures that are more drug-resistant, requiring higher doses or more than one drug.[3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • The Epilepsy Foundation has an information page on benign rolandic epilepsy. Click on Epilepsy Foundation to view the information page.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Benign rolandic epilepsy (BRE). Click on the link to view a sample search on this topic.

          References

          1. Holmes GL, Fisher RS, Hernandez A. Benign Rolandic Epilepsy. Epilepsy Foundation. February 2, 2015; https://www.epilepsy.com/learn/types-epilepsy-syndromes/benign-rolandic-epilepsy.
          2. Mellish LC, Dunkley C, Ferrie CD, Pal DK. Antiepileptic drug treatment of rolandic epilepsy and Panayiotopoulos syndrome: clinical practice survey and clinical trial feasibility. Arch Dis Child. January 2015; 100(1):62-67. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4283698/.
          3. Kaddurah AK. Benign Childhood Epilepsy. Medscape Reference. December 23, 2015; https://emedicine.medscape.com/article/1181649-overview#a7.
          4. Kniffen CL, Lopez A, McKusick VA. Centralopathic Epilepsy. Online Mendelian Inheritance in Man (OMIM). September 9, 2015; https://www.omim.org/entry/117100.
          5. Camfield C, Camfield P. Cognitive Disabilities and Long-term Outcomes in Children with Epilepsy: A Tangled Tail. Send to Semin Pediatr Neurol. November, 2017; 24(4):243-250. https://www.ncbi.nlm.nih.gov/pubmed/29249504.
          6. Blumstein MD, Friedman MJ. Childhood Seizures. Emerg Med Clin N Am. November 2007; 25(4):1061-86. https://www.ncbi.nlm.nih.gov/pubmed/17950136.
          7. Appleton R. Benign rolandic epilepsy. Epilepsy Action. November 2016; https://www.epilepsy.org.uk/info/benign.html.
          8. Verrotti A, Matricardi S, Di Giacomo DL, Rapino D, Chiarelli F, Coppola G. Neuropsychological impairment in children with Rolandic epilepsy and in their siblings. Epilepsy Behav. July, 2013; 28(1):108-112. https://www.ncbi.nlm.nih.gov/pubmed/23708147.
          9. Kim H, Kim SY, Lim BC, et al. Spike persistence and normalization in benign epilepsy with centrotemporal spikes Implications for management. Brain Dev. May, 2018; [Epub ahead of print]:

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